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Items: 1 to 20 of 130

1.

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.

Wohlleber E, Kirchhoff M, Zink AM, Kreiss-Nachtsheim M, Küchler A, Jepsen B, Kjaergaard S, Engels H.

Eur J Med Genet. 2011 Jan-Feb;54(1):67-72. doi: 10.1016/j.ejmg.2010.09.012. Epub 2010 Oct 13.

PMID:
20950717
2.

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

Gimelli S, Makrythanasis P, Stouder C, Antonarakis SE, Bottani A, Béna F.

Eur J Med Genet. 2011 Jan-Feb;54(1):94-6. doi: 10.1016/j.ejmg.2010.09.008. Epub 2010 Oct 8.

PMID:
20933621
3.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.

J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902.

PMID:
20522426
4.

A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.

Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.

Eur J Med Genet. 2012 Jun;55(6-7):437-40. doi: 10.1016/j.ejmg.2012.03.001. Epub 2012 Apr 2.

PMID:
22534424
5.

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.

Gene. 2013 Mar 1;516(1):158-61. doi: 10.1016/j.gene.2012.12.027. Epub 2012 Dec 22.

PMID:
23266801
6.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E.

Am J Med Genet A. 2004 Sep 1;129A(3):254-60.

PMID:
15326624
7.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
8.

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

Ruiter M, Koolen DA, Pfundt R, de Leeuw N, Klinkers HM, Sistermans EA, Veltman JA, de Vries BB.

Clin Dysmorphol. 2006 Jul;15(3):133-7.

PMID:
16760730
9.

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.

Reddy S, Dolzhanskaya N, Krogh J, Velinov M.

Eur J Med Genet. 2009 Nov-Dec;52(6):443-5. doi: 10.1016/j.ejmg.2009.09.003. Epub 2009 Sep 20.

PMID:
19772933
10.

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.

Magri C, Piovani G, Pilotta A, Michele T, Buzi F, Barlati S.

Eur J Med Genet. 2011 May-Jun;54(3):361-4. doi: 10.1016/j.ejmg.2010.12.011. Epub 2011 Jan 4.

PMID:
21211576
11.

A case of de novo interstitial deletion of chromosome 5(q33q34).

Giltay JC, Gerssen-Schoorl KB, Luitse GH, Dauwerse HG.

Clin Genet. 1997 Sep;52(3):173-6.

PMID:
9377807
12.

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.

Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB.

Am J Med Genet A. 2011 Jun;155A(6):1476-82. doi: 10.1002/ajmg.a.33981. Epub 2011 May 12. No abstract available.

PMID:
21567918
13.

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR.

Am J Med Genet A. 2007 Jun 15;143A(12):1348-53.

PMID:
17506097
14.
15.

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB.

Am J Med Genet A. 2006 Mar 15;140(6):618-23.

PMID:
16470689
16.

Mosaic microdeletion 18q21 as a cause of mental retardation.

Stavropoulos DJ, MacGregor DL, Yoon G.

Eur J Med Genet. 2010 Nov-Dec;53(6):396-9. doi: 10.1016/j.ejmg.2010.08.005. Epub 2010 Sep 21.

PMID:
20813211
17.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A.

Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27.

18.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

19.

DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation.

Engels H, Brockschmidt A, Hoischen A, Landwehr C, Bosse K, Walldorf C, Toedt G, Radlwimmer B, Propping P, Lichter P, Weber RG.

Neurology. 2007 Mar 6;68(10):743-50.

PMID:
17339581
20.

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

Gimelli S, Chrast J, Baban A, Henrichsen CN, Lerone M, Zuffardi O, Gimelli G, Reymond A.

Am J Med Genet A. 2010 May;152A(5):1285-94. doi: 10.1002/ajmg.a.33365.

PMID:
20425838

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